Varaico: Literature-Extracted Genetic Variants

Gene:TCF4
Variant:p.D130G

TCF4

565 papers

RefSeq Summary

This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in ...

Pfam Domains

HLHaa 540–593UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

transcription factor 4

HGNC Alias Symbols

SEF2-1B; ITF2; bHLHb19; E2-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001083962.2
p.D130G
c.389A>G
Surrounding Variants
1 paper
NM_001083962.2
p.D130H
c.388G>C
2 papers
NM_001083962.2
p.D130N
c.388G>A
1 paper
NM_001083962.2
p.G128delFs
c.383_384delTC
1 paper
NM_001083962.2
p.Q124_L127del4
c.370_380del12
1 paper
NM_001083962.2
p.G134S
c.400G>A
1 paper
NM_001083962.2
p.G134delFs
c.400delC
1 paper
NM_001083962.2
p.S125delFs
c.373delT
1 paper
NM_001083962.2
p.L139F
c.415C>T
1 paper
NM_001083962.2
p.P144fs
c.430_431fs
1 paper
NM_001083962.2
p.P144P
c.432T>C
1 paper
NM_001083962.2
p.P144delFs
c.431delG
1 paper
NM_001083962.2
p.G145R
c.433G>C
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